Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins. - Wikidata - wikimedia - TriplyDB

Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins.

Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins.

http://www.wikidata.org/entity/Q37070555

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8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families Novel phenotype of mouse spermatozoa following deletion of nine β-defensin genes Population genetic tools for dissecting innate immunity in humans Exploring the role of copy number variants in human adaptation Big defensins, a diverse family of antimicrobial peptides that follows different patterns of expression in hemocytes of the oyster Crassostrea gigas Evidence of convergent evolution in humans and macaques supports an adaptive role for copy number variation of the β-defensin-2 gene Genome-wide association analysis identifies three psoriasis susceptibility loci Variation in human β-defensin genes: new insights from a multi-population study Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing data Dysregulation of human beta-defensin-2 protein in inflammatory bowel disease.Manual annotation and analysis of the defensin gene cluster in the C57BL/6J mouse reference genome.Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.Haplotyping and copy number estimation of the highly polymorphic human beta-defensin locus on 8p23 by 454 amplicon sequencing.Determination of beta-defensin genomic copy number in different populations: a comparison of three methods.Identification of copy number variation hotspots in human populations.Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.Copy number variation shapes genome diversity in Arabidopsis over immediate family generational scales.Large multiallelic copy number variations in humans A potential relationship among beta-defensins haplotype, SOX7 duplication and cardiac defects.Accurate measurement of gene copy number for human alpha-defensin DEFA1A3.Partial deletion of chromosome 8 β-defensin cluster confers sperm dysfunction and infertility in male mice.Narrowing down the distal border of the copy number variable beta-defensin gene cluster on human 8p23.Copy number variation of the beta defensin gene cluster on chromosome 8p influences the bacterial microbiota within the nasopharynx of otitis-prone children.Evolutionary history of copy-number-variable locus for the low-affinity Fcγ receptor: mutation rate, autoimmune disease, and the legacy of helminth infection.Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region.Copy number variation of the beta-defensin genes in europeans: no supporting evidence for association with lung function, chronic obstructive pulmonary disease or asthma.Copy number variants (CNVs) in primate species using array-based comparative genomic hybridization.The challenges and importance of structural variation detection in livestock β-Defensins: multifunctional modulators of infection, inflammation and more?Human gene copy number variation and infectious disease.8p23 beta-defensin copy number determination by single-locus pseudogene-based paralog ratio tests risk bias due to low-frequency sequence variations.An evolutionary history of defensins: a role for copy number variation in maximizing host innate and adaptive immune responses.Adaptive potential of genomic structural variation in human and mammalian evolution.Analysis of Copy Number Variation Using the Paralogue Ratio Test (PRT).A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia.Low α-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction.Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy.β-Defensins Coordinate In Vivo to Inhibit Bacterial Infections of the Trachea

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Allelic recombination between distinct genomic locations generates copy number diversity in human beta-defensins.

http://www.wikidata.org/entity/Q37070555

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article científic

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bilimsel makale

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scientific article published on 08 January 2009

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vedecký článok

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vetenskaplig artikel

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Allelic recombination between ...... rsity in human beta-defensins.

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PNAS.0809073106

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Proceedings of the National Academy of Sciences of the United States of America

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Allelic recombination between ...... ersity in human beta-defensins

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Edward J Hollox

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John A L Armour

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Suhaili Abu Bakar

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P2860

Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence

Mapping and sequencing of structural variation from eight human genomes

Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster.

A -defensin mutation causes black coat color in domestic dogs

Diet and the evolution of human amylase gene copy number variation

Global variation in copy number in the human genome

A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon

Beta-defensin genomic copy number is not a modifier locus for cystic fibrosis.

Defensins: antimicrobial peptides of innate immunity

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

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